Khamaganova E G, Parovichnikova E N, Kuz'mina L A, Gemdzhian É G, Chugreeva T P, Iushkova A A
Ter Arkh. 2014;86(7):31-6.
To study the distribution of HLA-A*-B*-C*-DRB1 *-DQB1 * haplotypes in patients with blood system diseases, to establish the most common HLA haplotypes, and to compare the findings with the data on the frequency and distribution of the highest-frequency HLA haplotypes in donors of a number of leading registries.
In 2008-2012, the Hematology Research Center, Ministry of Health of the Russian Federation, examined 203 patients with blood system diseases who needed allogeneic hematopoietic stem cell transplantation (allo-HSCT) and their 386 blood relatives. Typing ascertained the kind of HLA haplotype in all the patients. Among the patients, there were 97 men who were aged 17 to 64 years (median 38 years) and 106 women who were aged 18 to 59 years (median 40 years).
The examinees were found to have 265 different HLA haplotypes. There were 21 high-frequency HLA haplotypes; of them 7 belonged to 10 HLA haplotypes that are most frequent in the representatives of the Caucasoid race. Nearly 30% of the patients who needed allo-HSCT and had no HLA-identical siblings had HLA haplotypes out of the 10 ones that are most common in the representatives of the Caucasoids and thus could expect to find a compatible unrelated donor for a short time. The examinees were found to have a wide variety of HLA haplotypes (265 types in 203 persons). This variety, as well as the extreme polymorphism of HLA alleles, shows that there should be large registries of HLA-typed bone marrow donors in the country. These registries increase the chance to find a HLA-compatible unrelated donor for a short time for a patient with blood disease who has an indication for hematopoietic stem cell transplantation. The performed study supported that there were regional features in the distribution of HLA haplotypes within the same ethnic group.
The chance to find a HLA-compatible donor for Russian patients in the large national registry that accumulates donors from different regional populations is substantially higher than that in the foreign registries. To create large cohorts of HLA-typic bone marrow donors from different regions of the country will substantially increase the chance of patients with blood system diseases to find a HLA-compatible unrelated donor.
研究血液系统疾病患者中HLA - A* - B* - C* - DRB1* - DQB1*单倍型的分布情况，确定最常见的HLA单倍型，并将研究结果与一些主要登记处供者中高频HLA单倍型的频率和分布数据进行比较。
2008 - 2012年，俄罗斯联邦卫生部血液学研究中心对203例需要异基因造血干细胞移植（allo - HSCT）的血液系统疾病患者及其386名血亲进行了检查。分型确定了所有患者的HLA单倍型种类。患者中，有97名年龄在17至64岁（中位年龄38岁）的男性和106名年龄在18至59岁（中位年龄40岁）的女性。
检查发现受检者有265种不同的HLA单倍型。有21种高频HLA单倍型；其中7种属于白种人代表中最常见的10种HLA单倍型。近30%需要allo - HSCT且无HLA相合同胞的患者拥有白种人代表中最常见的10种HLA单倍型中的单倍型，因此有望在短时间内找到匹配的非血缘供者。研究发现受检者拥有多种HLA单倍型（203人中有265种）。这种多样性以及HLA等位基因的极端多态性表明，该国应有大型的HLA分型骨髓供者登记处。这些登记处增加了为有造血干细胞移植指征的血液病患者在短时间内找到HLA匹配非血缘供者的机会。所进行的研究支持同一民族内HLA单倍型分布存在区域特征。
在积累了来自不同地区人群供者的大型国家登记处中，俄罗斯患者找到HLA匹配供者的机会明显高于国外登记处。建立来自该国不同地区的大型HLA分型骨髓供者队列将大幅增加血液系统疾病患者找到HLA匹配非血缘供者的机会。
